Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal enchondral ossification (HP:0003336)

Grandparent Node:
Abnormal femoral neck/head morphology (HP:0003366)

Parent Node:
Abnormal femoral head morphology (HP:0003368)

Parent Node:
Abnormal ossification involving the femoral head and neck (HP:0009107)

..Starting node
..Delayed femoral head ossification (HP:0008829)

Term ID:

8829

Name:

Delayed femoral head ossification

Synonym:

Delayed maturation of the head of the thigh bone

Definition:

Delayed ossification of the femoral head.

Comments:

Reference:

HP:0008829

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent ossification of capital femoral epiphysis (HP:0008820)

Delayed proximal femoral epiphyseal ossification (HP:0008828)

Early ossification of capital femoral epiphyses (HP:0008797)

Multicentric femoral head ossification (HP:0008835)

Multicentric ossification of proximal femoral epiphyses (HP:0006450)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008829	HP:0008829	Delayed femoral head ossification	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0008829	HP:0008829	Delayed femoral head ossification	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166

Genes (2) :DYM SLC26A2

Diseases (2) :OMIM:607326 ORPHA:93307

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.